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Niemann-Pick disease type C symptomatology: an expert-based clinical description

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to it...

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Detalles Bibliográficos
Autores principales:	Mengel, Eugen, Klünemann, Hans-Hermann, Lourenço, Charles M, Hendriksz, Christian J, Sedel, Frédéric, Walterfang, Mark, Kolb, Stefan A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853996/ https://www.ncbi.nlm.nih.gov/pubmed/24135395 http://dx.doi.org/10.1186/1750-1172-8-166

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